Associated Papers
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM1_ESM.pdf
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X et al.
Current Eye Research, 2018
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
Park SH et al.
Molecular Vision, 2012
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